SCIENTIFIC BACKGROUND

CACNA1H, CLCN2, EFHC1, GABRA1, GABRA5, GABRB3, GABRG2, SLC2A1, SLC6A1

Scientific Background

  • Childhood absence epilepsy type 2 (ECA2) (GABRG2)
  • Childhood absence epilepsy type 4 (ECA4) (GABRA1)
  • Childhood absence epilepsy type 5 (ECA5) (GABRB3)
  • Childhood absence epilepsy type 6 (ECA6) (CACNA1H)
  • Idiopathic generalized epilepsy (SLC2A1)
  • Juvenile absence epilepsy (EFHC1)
  • Juvenile absence epilepsy type 2 (CLCN2)
  • Juvenile/childhood absence epilepsy (GABRA5)
  • Myoclonic-atonic epilepsy (MAE) (SLC6A1)

 

All disorders are inherited in an autosomal dominant pattern. Genes in bold are core genes.

 

For detailed information on epilepsies and diagnostics, please visit our overview page EPILEPSY.

GENES

CACNA1H, CLCN2, EFHC1, GABRA1, GABRA5, GABRB3, GABRG2, SLC2A1, SLC6A1

ASSOCIATED TESTS

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